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QuickView for ENG;jsessionid=DA8418571AF35E1CD8994477639793A5 (gene)


Gene Symbol:
ENG Homo sapiens Homo sapiens
Full name:
endoglin
Synonyms:
END, HHT1, ORW1, endoglin, CD105 antigen
Genomic Location:
Chr 9: 129617115-129656805
Description:
This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-...
Orthologs:
Mus musculus Rattus norvegicus Macaca mulatta Canis lupus familiaris Bos taurus Pan troglodytes Gallus gallus
External Links:
Entrez Gene
Cytogenetic Map:
chr 9
9q34.11





GO Molecular Function

transforming growth factor beta binding | cytokine binding | BMP binding | transmembrane signaling receptor activity | protein-containing complex binding | galactose binding | transforming growth factor beta receptor binding | signaling receptor binding | carbohydrate derivative binding | cytokine receptor binding | growth factor binding | monosaccharide binding | activin binding | signaling receptor activity | identical protein binding | type I transforming growth factor beta receptor binding | carbohydrate binding | protein binding | protein homodimerization activity | protein dimerization activity | glycosaminoglycan binding | type II transforming growth factor beta receptor binding | transforming growth factor beta receptor, cytoplasmic mediator activity | small molecule binding

GO Biological Process

negative regulation of phosphorylation | ventricular cardiac muscle tissue morphogenesis | positive regulation of macromolecule biosynthetic process | extracellular structure organization | cell motility | muscle tissue development | endothelial cell development | regulation of cell development | regulation of localization | positive regulation of collagen metabolic process | heart trabecula morphogenesis | morphogenesis of an epithelium | regulation of programmed cell death | smooth muscle cell differentiation | establishment of localization | response to hormone | regulation of transforming growth factor beta receptor signaling pathway | cell migration involved in endocardial cushion formation | dorsal aorta development | negative regulation of cellular process | positive regulation of developmental process | bone development | regulation of cardiac muscle cell apoptotic process | cell differentiation | endothelial cell differentiation | nervous system development | epithelial to mesenchymal transition | response to drug | negative regulation of protein phosphorylation | epithelial to mesenchymal transition involved in endocardial cushion formation | positive regulation of phosphate metabolic process | mesenchyme development | cardiac atrium morphogenesis | blood vessel morphogenesis | pattern specification process | positive regulation of cellular biosynthetic process | cellular process | secretion | establishment of blood-brain barrier | regulation of cell motility | localization | epithelial tube morphogenesis | heart morphogenesis | determination of left/right symmetry | positive regulation of epithelial to mesenchymal transition | positive regulation of pathway-restricted SMAD protein phosphorylation | response to growth factor | positive regulation of nitrogen compound metabolic process | negative regulation of cell migration | negative regulation of cellular metabolic process | tissue development | regulation of cell differentiation | positive regulation of muscle cell differentiation | muscle structure development | muscle cell differentiation | negative regulation of cell motility | regulation of angiogenesis | regulation of protein kinase B signaling | regulation of cellular process | regulation of apoptotic process | regulation of metabolic process | trabecula morphogenesis | positive regulation of cellular protein metabolic process | regulation of neural crest cell differentiation | negative regulation of protein autophosphorylation | epithelium development | cellular component organization | ventricular trabecula myocardium morphogenesis | response to transforming growth factor beta | sprouting angiogenesis | muscle organ morphogenesis | branching involved in blood vessel morphogenesis | regulation of vasculature development | response to stimulus | vasculature development | muscle cell development | cellular response to mechanical stimulus | positive regulation of protein metabolic process | determination of heart left/right asymmetry | establishment of endothelial blood-brain barrier | regulation of cell proliferation | vascular smooth muscle cell differentiation | atrial cardiac muscle tissue morphogenesis | tube morphogenesis | cardiac muscle tissue development | muscle tissue morphogenesis | epithelial cell development | extracellular matrix constituent secretion | central nervous system vasculogenesis | secretion by cell | cardiovascular system development | cardiac ventricle morphogenesis | extracellular matrix organization | negative regulation of metabolic process | positive regulation of BMP signaling pathway | positive regulation of RNA biosynthetic process | embryo development | regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis | blood vessel development | regulation of nucleic acid-templated transcription | locomotion | response to BMP | endocardial cushion development | system development | regulation of signal transduction | endothelium development | negative regulation of phosphate metabolic process | multicellular organism development | cell migration | regulation of BMP signaling pathway | regulation of collagen biosynthetic process | positive regulation of protein kinase B signaling | regulation of phosphorylation | cardiac epithelial to mesenchymal transition | artery development | determination of bilateral symmetry | regulation of gene expression | outflow tract morphogenesis | response to lipid | endocardial cushion morphogenesis | regulation of protein autophosphorylation | embryonic heart tube morphogenesis | positive regulation of cellular metabolic process | positive regulation of protein phosphorylation | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | regulation of smooth muscle cell differentiation | atrioventricular canal morphogenesis | animal organ morphogenesis | establishment of endothelial barrier | regulation of nitrogen compound metabolic process | regulation of cell migration | enzyme linked receptor protein signaling pathway | cardiac atrium development | positive regulation of intracellular signal transduction | response to corticosteroid | regulation of cellular component movement | regulation of transcription by RNA polymerase II | positive regulation of smooth muscle cell differentiation | positive regulation of cell differentiation | regulation of cell proliferation involved in heart morphogenesis | regulation of cellular protein metabolic process | angiogenesis | mesenchyme morphogenesis | cardiac septum morphogenesis | heart looping | regulation of muscle cell apoptotic process | striated muscle tissue development | cardiac muscle tissue morphogenesis | cell communication | regulation of cellular metabolic process | transmembrane receptor protein serine/threonine kinase signaling pathway | regulation of collagen metabolic process | regulation of protein metabolic process | positive regulation of signal transduction | vasculogenesis | chronological cell aging | heart development | regulation of protein phosphorylation | regulation of locomotion | regulation of RNA metabolic process | regulation of stem cell differentiation | regulation of cellular response to growth factor stimulus | cell aging | embryonic morphogenesis | smooth muscle tissue development | venous blood vessel development | cell migration involved in heart development | embryonic organ morphogenesis | cardiac ventricle development | positive regulation of protein modification process | response to organic substance | tissue morphogenesis | artery morphogenesis | branching morphogenesis of an epithelial tube | response to mechanical stimulus | regulation of animal organ morphogenesis | regulation of intracellular signal transduction | ventricular cardiac muscle tissue development | embryonic heart tube development | anatomical structure development | cell surface receptor signaling pathway | aorta development | mesenchymal cell differentiation | regulation of RNA biosynthetic process | embryonic organ development | cell adhesion | endocardial cushion to mesenchymal transition | negative regulation of gene expression | animal organ development | negative regulation of cellular protein metabolic process | negative regulation of cellular component movement | dorsal aorta morphogenesis | regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | regulation of heart morphogenesis | regulation of phosphate metabolic process | aorta morphogenesis | morphogenesis of a branching epithelium | anatomical structure formation involved in morphogenesis | negative regulation of protein metabolic process | BMP signaling pathway | regulation of cell communication | signaling | regulation of transcription, DNA-templated | response to organic cyclic compound | cell development | positive regulation of phosphorylation | endocardial cushion formation | morphogenesis of a branching structure | anatomical structure morphogenesis | regulation of developmental process | developmental process | regulation of muscle cell differentiation | vascular smooth muscle cell development | cardiac septum development | tube development | positive regulation of transcription, DNA-templated | positive regulation of nucleic acid-templated transcription | epithelial cell differentiation | positive regulation of transcription by RNA polymerase II | venous blood vessel morphogenesis | regulation of epithelial to mesenchymal transition | cardiac chamber development | central nervous system development | positive regulation of metabolic process | positive regulation of vascular smooth muscle cell differentiation | cellular response to BMP stimulus | skeletal system development | positive regulation of collagen biosynthetic process | cellular response to organic substance | regulation of cell death | response to steroid hormone | circulatory system development | aging | negative regulation of locomotion | positive regulation of angiogenesis | positive regulation of cardiac epithelial to mesenchymal transition | muscle organ development | positive regulation of signaling | signal transduction | regulation of signaling | regulation of pathway-restricted SMAD protein phosphorylation | positive regulation of gene expression | outflow tract septum morphogenesis | cellular response to growth factor stimulus | multicellular organismal process | regulation of phosphorus metabolic process

GO Cellular Component

integral component of membrane | catalytic complex | adherens junction | transforming growth factor beta receptor complex | focal adhesion | protein kinase complex | cell | plasma membrane protein complex | intrinsic component of membrane | endothelial microparticle | external side of plasma membrane | cell-substrate junction | receptor complex | protein-containing complex | plasma membrane | transferase complex | integral component of plasma membrane | extracellular region | serine/threonine protein kinase complex | extracellular space | cell periphery | cell-substrate adherens junction | blood microparticle | cell surface | cell junction | membrane | intrinsic component of plasma membrane